Canonical Allele Identifier: CA2806037457
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150887_16150888del , CM000678.2:g.16150887_16150888del GRCh38
NC_000016.9:g.16244744_16244745del , CM000678.1:g.16244744_16244745del GRCh37
NC_000016.8:g.16152245_16152246del NCBI36
NG_007558.2:g.77584_77585del
NG_007558.3:g.77730_77731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.*381-116_*381-115del ENSP00000483331.2:n.*381-116_*381-115del
ENST00000205557.12:c.4209-116_4209-115del MANE Select ENSP00000205557.7:n.4209-116_4209-115del
ENST00000640696.1:c.1023-116_1023-115del ENSP00000492197.1:n.1023-116_1023-115del
ENST00000205557.11:c.4209-116_4209-115del ENSP00000205557.7:n.4209-116_4209-115del
ENST00000456970.6:c.3834-116_3834-115del ENSP00000405002.2:n.3834-116_3834-115del
ENST00000576204.5:n.1072-116_1072-115del
ENST00000622290.4:c.*1418-116_*1418-115del ENSP00000483331.1:n.*1418-116_*1418-115del
NM_001171.5:c.4209-116_4209-115del NP_001162.4:n.4209-116_4209-115del
XM_011522479.1:c.4176-116_4176-115del XP_011520781.1:n.4176-116_4176-115del
XM_011522480.1:c.3867-116_3867-115del XP_011520782.1:n.3867-116_3867-115del
XM_011522481.1:c.3867-116_3867-115del XP_011520783.1:n.3867-116_3867-115del
XR_933134.1:n.538+6597_538+6598del
NM_001351800.1:c.3867-116_3867-115del NP_001338729.1:n.3867-116_3867-115del
NR_147784.1:n.3871-116_3871-115del
XM_011522479.2:c.4176-116_4176-115del XP_011520781.1:n.4176-116_4176-115del
XM_011522481.3:c.3867-116_3867-115del XP_011520783.1:n.3867-116_3867-115del
XM_017023212.1:c.4041-116_4041-115del XP_016878701.1:n.4041-116_4041-115del
XM_024450261.1:c.4245-116_4245-115del XP_024306029.1:n.4245-116_4245-115del
NM_001171.6:c.4209-116_4209-115del MANE Select NP_001162.5:n.4209-116_4209-115del